ClinVar Miner

List of variants in gene KCNJ11 studied for KCNJ11-Related Disorders

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000525.4(KCNJ11):c.616C>T (p.Arg206Cys) rs775204908 0.00001
NM_000525.4(KCNJ11):c.149G>C (p.Arg50Pro) rs80356611
NM_000525.4(KCNJ11):c.718dup (p.Met240fs) rs1554901718

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